loading...| Preferred Name |
Mitochondrial encephalomyopathy |
|
| Synonyms |
Mitochondrial encephalomyopathy (disorder) Mitochondrial myoencephalopathy |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/447292006 |
|
| Active |
1 |
|
| altLabel |
Mitochondrial encephalomyopathy (disorder) Mitochondrial myoencephalopathy |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XUkSy |
|
| cui |
C0162666 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20110131 |
|
| Has finding site | ||
| notation |
447292006 |
|
| prefLabel |
Mitochondrial encephalomyopathy |
|
| Subset member |
6011000124106~MAPADVICE~IF RRM2B-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY CHOOSE N25.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~N25.9 6011000124106~MAPADVICE~IF SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY CHOOSE G93.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 230426003 | Myoclonic epilepsy with ragged red fibers | 6011000124106~MAPTARGET~E71.120 6011000124106~MAPRULE~IFA 722212004 | Severe X-linked mitochondrial encephalomyopathy (disorder) | 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis with methylmalonic aciduria | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days 6011000124106~MAPADVICE~ALWAYS G71.3 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 447562003~MAPTARGET~G71.3 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 722212004 | Severe X-linked mitochondrial encephalomyopathy | 6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA CHOOSE E71.120 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME CHOOSE G93.41 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000497000~MAPTARGET~XUkSy 6011000124106~MAPTARGET~G40.309 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~G71.3 6011000124106~MAPRULE~IFA 763688008 | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome | 6011000124106~MAPADVICE~ALWAYS G71.3 6011000124106~MAPTARGET~G94 6011000124106~MAPTARGET~G93.49 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~E88.42 447562003~MAPADVICE~ALWAYS G71.3 447562003~MAPGROUP~1 6011000124106~MAPRULE~IFA 718214007 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | 6011000124106~MAPADVICE~IF FASTKD2-RELATED INFANTILE MITOCHONDRIAL ENCEPHALOMYOPATHY CHOOSE G94 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF DEAFNESS, ENCEPHALONEUROPATHY, OBESITY, VALVULOPATHY SYNDROME CHOOSE Q07.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q24.8 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF MYOCLONIC EPILEPSY WITH RAGGED RED FIBERS CHOOSE G40.309 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis with methylmalonic aciduria | 6011000124106~MAPADVICE~ALWAYS G93.41 447562003~MAPPRIORITY~1 6011000124106~MAPTARGET~G93.89 6011000124106~MAPRULE~IFA 778029000 | FASTKD2-related infantile mitochondrial encephalomyopathy | 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 765100000 | RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | 6011000124106~MAPADVICE~IF DEAFNESS, ENCEPHALONEUROPATHY, OBESITY, VALVULOPATHY SYNDROME CHOOSE Q24.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME CHOOSE K92.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~K92.89 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPTARGET~Q07.8 6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P84 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 718214007 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~P84 6011000124106~MAPADVICE~IF MITOCHONDRIAL DNA DEPLETION SYNDROME ENCEPHALOMYOPATHIC FORM CHOOSE Q07.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF DEAFNESS, ENCEPHALONEUROPATHY, OBESITY, VALVULOPATHY SYNDROME CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF MYOCLONIC EPILEPSY WITH RAGGED RED FIBERS CHOOSE E88.42 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E66.9 6011000124106~MAPADVICE~IF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME CHOOSE G93.49 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~ALWAYS G93.41 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPRULE~IFA 765401006 | Mitochondrial DNA depletion syndrome encephalomyopathic form | 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF DEAFNESS, ENCEPHALONEUROPATHY, OBESITY, VALVULOPATHY SYNDROME CHOOSE E66.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~G93.41 6011000124106~MAPTARGET~H90.5 6011000124106~MAPTARGET~E87.2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |